Published in J Med Genet on June 01, 1975
Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. J Med Genet (1989) 1.12
Creatine phosphokinase levels in the newborn and their use in screening for Duchenne muscular dystrophy. Arch Dis Child (1979) 1.07
A population study of adult onset limb-girdle muscular dystrophy. J Med Genet (1985) 0.95
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. J Med Genet (1986) 0.92
Serum creatine kinase levels in normal females. J Med Genet (1979) 0.84
Benign muscular dystrophy: risk calculation in families with consanguinity. J Med Genet (1989) 0.80
An improved procedure for serum creatine phosphokinase determination. J Lab Clin Med (1967) 6.12
CREATINE KINASE LEVELS IN WOMEN WHO CARRY GENES FOR THREE TYPES OF MUSCULAR DYSTROPHY. Br Med J (1965) 2.64
Progressive Muscular Dystrophy. V. The Identification of the Carrier State in the Duchenne Type by Serum Creatine Kinase Determination. Am J Hum Genet (1963) 2.12
An assessment of the creatine kinase test in the detection of carriers of Duchenne muscular dystrophy. J Pediatr (1967) 1.92
Genetic counselling. Scott Med J (1969) 1.87
[New results of genetics of muscular dystrophy]. Acta Genet Stat Med (1957) 1.85
Two families of benign sex-linked recessive muscular dystrophy. Rev Can Biol (1963) 1.78
Genetic counselling in X-linked muscular dystrophy. J Neurol Sci (1969) 1.39
[Technique for the determination of creatine phosphokinase in blood]. Rev Fr Etud Clin Biol (1961) 1.20
Carrier detection in sex-linked muscular dystrophy. J Genet Hum (1965) 0.99
Detection of carriers of benign X-linked muscular dystrophy. Br Med J (1967) 0.93
The value of serum enzyme determinations in the identification of dystrophic carriers. Ann N Y Acad Sci (1966) 0.91
The autism-spectrum quotient (AQ): evidence from Asperger syndrome/high-functioning autism, males and females, scientists and mathematicians. J Autism Dev Disord (2001) 14.30
Lipid peroxidation is a consequence of elicitor activity. Plant Physiol (1988) 3.20
Site of action of a ribosomal RNA methylase responsible for resistance to erythromycin and other antibiotics. J Biol Chem (1983) 3.11
The anticoagulant activation of antithrombin by heparin. Proc Natl Acad Sci U S A (1997) 3.09
The nosology of the spinal muscular atrophies. J Med Genet (1971) 2.84
Effects of unprocessed bran on colon function in normal subjects and in diverticular disease. Lancet (1974) 2.81
Proteins from plant cell walls inhibit polygalacturonases secreted by plant pathogens. Proc Natl Acad Sci U S A (1971) 2.80
Spinal muscular atrophy type II. A separate genetic and clinical entity from type I (Werdnig-Hoffmann disease) and type 3 (Kugelberg-Welander disease). Clin Genet (1971) 2.51
Ascertainment and prevention of genetic disease. Br Med J (1970) 2.33
Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry (1966) 2.29
The effects of genetic counselling in Duchenne muscular dystrophy. Clin Genet (1972) 2.16
T-cell frequency analysis does not predict the incidence of graft-versus-host disease in HLA-matched sibling bone marrow transplantation. Transplantation (2000) 2.15
A report on genetic registers. Based on the report of the Clinical Genetics Society Working Party. J Med Genet (1978) 2.09
Intestinal streaming patterns in cholerrhoeic enteropathy and diverticular disease. Gut (1974) 1.95
Relation of lipoprotein subclasses as measured by proton nuclear magnetic resonance spectroscopy to coronary artery disease. Arterioscler Thromb Vasc Biol (1998) 1.95
Genetic linkage between the loci for colour blindness and Duchenne type muscular dystrophy. J Med Genet (1966) 1.89
Genetic counselling. Scott Med J (1969) 1.87
Immunohistochemical evidence for apoptosis in Alzheimer's disease. Neuroreport (1994) 1.81
Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet (1976) 1.79
Body fat distribution and male/female differences in lipids and lipoproteins. Circulation (1990) 1.79
A genetic register system (RAPID). J Med Genet (1974) 1.76
The manifesting carrier in Duchenne muscular dystrophy. Clin Genet (1974) 1.71
Accumulation of a Polyhydroxyalkanoate Containing Primarily 3-Hydroxydecanoate from Simple Carbohydrate Substrates by Pseudomonas sp. Strain NCIMB 40135. Appl Environ Microbiol (1990) 1.69
The genetics of muscular dystrophy. Prog Med Genet (1967) 1.63
Feasibility of neonatal screening for Duchenne muscular dystrophy. J Med Genet (1982) 1.62
Individuals at risk in families with genetic disease. J Med Genet (1971) 1.59
Genetics of ankylosing spondylitis. J Med Genet (1967) 1.57
Ifosfamide nephrotoxicity: limited influence of metabolism and mode of administration during repeated therapy in paediatrics. Eur J Cancer (1996) 1.54
Odor-induced increases in c-fos mRNA expression reveal an anatomical "unit" for odor processing in olfactory bulb. Proc Natl Acad Sci U S A (1993) 1.54
The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups. Ann Hum Genet (1969) 1.52
Social effects of genetic counselling. Br Med J (1973) 1.50
Genetic counselling in lethal X-linked disorders. Acta Genet Stat Med (1968) 1.49
Prospective study of genetic counselling. Br Med J (1979) 1.47
A potential role for apoptosis in neurodegeneration and Alzheimer's disease. Mol Neurobiol (1995) 1.43
Unexplained syncope evaluated by electrophysiologic studies and head-up tilt testing. Ann Intern Med (1991) 1.40
Estimation of proportion of new mutants among cases of Duchenne muscular dystrophy. J Med Genet (1978) 1.39
Genetic counselling in X-linked muscular dystrophy. J Neurol Sci (1969) 1.39
Structural requirements for the carbohydrate ligand of E-selectin. Proc Natl Acad Sci U S A (1991) 1.39
A study of criteria for blood donor deferral. Transfusion (1980) 1.39
Activated caspase-3 expression in Alzheimer's and aged control brain: correlation with Alzheimer pathology. Brain Res (2001) 1.36
Correlation between caspase activation and neurofibrillary tangle formation in Alzheimer's disease. Am J Pathol (2001) 1.35
Analysis of expressed sequence tag loci on wheat chromosome group 4. Genetics (2004) 1.33
Early diagnostic efficiency of cardiac troponin I and Troponin T for acute myocardial infarction. Acad Emerg Med (1997) 1.33
A study of possible heterogeneity in Duchenne muscular dystrophy. Clin Genet (1979) 1.31
International collaborative study of the spinal muscular atrophies. Part 2. Analysis of genetic data. J Neurol Sci (1976) 1.30
Chemotherapy alone or chemotherapy with chest radiation therapy in limited stage small cell lung cancer. A prospective, randomized trial. Ann Intern Med (1987) 1.30
Effects of drinking patterns on the relationship between alcohol an coronary occlusion. Atherosclerosis (1982) 1.29
Characterization of a potassium channel toxin from the Caribbean Sea anemone Stichodactyla helianthus. Toxicon (1995) 1.27
Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull (1980) 1.27
Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness. J Med Genet (1974) 1.24
Genetic analysis of the aggA locus involved in agglutination and adherence of Pseudomonas putida, a beneficial fluorescent pseudomonad. Mol Plant Microbe Interact (1992) 1.23
Accumulation of a poly(hydroxyalkanoate) copolymer containing primarily 3-hydroxyvalerate from simple carbohydrate substrates by Rhodococcus sp. NCIMB 40126. Int J Biol Macromol (1991) 1.23
The Effect of Extracellular Components from Colletotrichum lindemuthianum on Membrane Transport in Vesicles Isolated from Bean Hypocotyl. Plant Physiol (1987) 1.22
Catalase and superoxide dismutase of root-colonizing saprophytic fluorescent pseudomonads. Appl Environ Microbiol (1990) 1.20
The epidemiology of motor neuron disease in Scotland. Muscle Nerve (1982) 1.19
Hirschsprung's disease and congenital deafness. J Med Genet (1973) 1.17
Communication with parents of children with cancer. Palliat Med (1994) 1.16
Identification of an E-selectin region critical for carbohydrate recognition and cell adhesion. J Cell Biol (1992) 1.16
Cancer presentation in the emergency department: a failure of primary care. Am J Emerg Med (1992) 1.15
Retention or resumption of employment after aortocoronary bypass operations. JAMA (1980) 1.14
P- and E-selectin use common sites for carbohydrate ligand recognition and cell adhesion. J Cell Biol (1993) 1.14
Postmenopausal use of estrogen and occlusion of coronary arteries. Am Heart J (1988) 1.14
An atlas of serpin conformations. Trends Biochem Sci (1998) 1.13
Conformational changes in serpins: II. The mechanism of activation of antithrombin by heparin. J Mol Biol (2000) 1.12
A simple two-stage model predicts response time distributions. J Physiol (2009) 1.11
The association of smoking with cardiomyopathy. N Engl J Med (1984) 1.10
Evidence for a streptococcal superantigen-driven process in acute guttate psoriasis. J Clin Invest (1995) 1.10
Isolation and characterization of polycyclic aromatic hydrocarbon-degrading Mycobacterium isolates from soil. Microb Ecol (2004) 1.09
Newly identified psychiatric illness in one general practice: 12-month outcome and the influence of patients' personality. Br J Gen Pract (1995) 1.09
Amniotic fluid cells; prenatal sex prediction and culture. Br Med J (1970) 1.08
Unique aspects of the cell surface polysaccharide of Pseudomonas phaseolicola as demonstrated by bacteriophage specificity. Can J Microbiol (1980) 1.07
Dietary practices, attitudes, and physiological status of collegiate freshman football players. J Strength Cond Res (2001) 1.06
Alcohol and coronary arteries. Alcohol Clin Exp Res (1979) 1.05
Health-related quality of life in survivors of BMT for paediatric malignancy: a systematic review of the literature. Bone Marrow Transplant (2008) 1.05
Prevalence of undiagnosed syphilis in the elderly. Lancet (1986) 1.05
Exertional heat stroke induced by amphetamine analogues. Does dantrolene have a place? Anaesthesia (1993) 1.04
Response of plant-colonizing pseudomonads to hydrogen peroxide. Appl Environ Microbiol (1989) 1.04
Both solar UVA and UVB radiation impair conidial culturability and delay germination in the entomopathogenic fungus Metarhizium anisopliae. Photochem Photobiol (2001) 1.03
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood (2000) 1.03
An assessment of exposure indices in computed radiography for the posterior-anterior chest and the lateral lumbar spine. Br J Radiol (2006) 1.03
Dendrotoxins: snake toxins that block potassium channels and facilitate neurotransmitter release. Pharmacol Ther (1985) 1.03
Lysosomal enzyme activity in rats with adjuvant-induced arthritis. Ann Rheum Dis (1970) 1.02
Echocardiographic demonstration of decreased left ventricular dimensions and vigorous myocardial contraction during syncope induced by head-up tilt. J Am Coll Cardiol (1991) 1.02
The effect of anti-inflammatory drugs on the enzymic activity of a rat liver granular fraction which increases vascular permeability. Biochem Pharmacol (1968) 1.02
Hereditary myopathies. Clin Orthop Relat Res (1968) 1.01
Identification of yeasts from infected bovine mammary glands and their experimental infectivity in cattle. Am J Vet Res (1980) 1.01
Variability in response to UV-B among species and strains of Metarhizium isolated from sites at latitudes from 61 degrees N to 54 degrees S. J Invertebr Pathol (2001) 1.00
Intracellular calcium and pathogenesis and antenatal diagnosis of Duchenne muscular dystrophy. Br Med J (1980) 1.00
Muscle histology and creatine kinase levels in the foetus in Duchenne muscular dystrophy. Nature (1977) 1.00
Conformational changes in serpins: I. The native and cleaved conformations of alpha(1)-antitrypsin. J Mol Biol (2000) 1.00
Heparin-dependent modification of the reactive center arginine of antithrombin and consequent increase in heparin binding affinity. J Biol Chem (1997) 1.00
The incidence of Duchenne muscular dystrophy in the South East of Scotland. Clin Genet (1977) 1.00